Matthew J. Ferber

CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

Evolution of the germline mutation rate across vertebrates

Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism